The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

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Engelhardt K. R., Gertz M. E., Keles S., Schaeffer A. A., Sigmund E. C., Glocker C., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.136, no.2, pp.402-412, 2015 (SCI-Expanded) identifier identifier identifier


Background: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management.